medulloblastoma
Findings
No curated finding names medulloblastoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.
Definition from the Mondo Disease Ontology (MONDO:0007959), read 2026-09-29. CC BY 4.0.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- MedulloblastomaHPOHP:0002885
- Obligate (100% of cases)
- Abnormal brain FDG positron emission tomographyHPOHP:0012658
- Frequent (30% to 79% of cases)
- Abnormal cranial nerve morphologyHPOHP:0001291
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Cerebellar ataxia associated with quadrupedal gaitHPOHP:0009878
- Frequent (30% to 79% of cases)
- Cerebellar medulloblastomaHPOHP:0007129
- Frequent (30% to 79% of cases)
- Delayed cranial suture closure
Show the remaining 22
- Nausea and vomitingHPOHP:0002017
- Frequent (30% to 79% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Frequent (30% to 79% of cases)
- Progressive macrocephalyHPOHP:0004481
- Frequent (30% to 79% of cases)
- Abnormal bone marrow cell morphologyHPOHP:0005561
- Occasional (5% to 29% of cases)
- Adenomatous colonic polyposisHPOHP:0005227
- Occasional (5% to 29% of cases)
- Back painHPOHP:0003418
- Occasional (5% to 29% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ELP1HGNC:5959
- Definitive · Natera · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2022
- SUFUHGNC:16466
- Definitive · ClinGen · Autosomal dominant · 2018
- Strong · Ambry Genetics · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- GPR161HGNC:23694
- Strong · PanelApp Australia · Autosomal dominant · 2025
- BRCA2HGNC:1101
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- Narrower terms (14)
- adult medulloblastoma
- anaplastic/large cell medulloblastoma
- brain stem medulloblastoma
- cerebellar vermis medulloblastoma
- childhood medulloblastoma
- classic medulloblastoma
- desmoplastic/nodular medulloblastoma
- large cell medulloblastoma
- medulloblastoma non-WNT/non-SHH
- medulloblastoma SHH activated
- medulloblastoma with extensive nodularity
- medulloblastoma WNT activated
- medullomyoblastoma with myogenic differentiation
- melanotic medulloblastoma
Other names
6 names
Resolves to: medulloblastoma
- Also called
- cerebellum embryonal neoplasmmedulloblastoma, autosomal recessive, autosomal dominant, somatic mutationmedulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutationmedulloblastoma, malignantmedulloblastoma, somaticmedulloblastomas